Author

Eva Holtkamp

Technical University of MunichORCID 0000-0002-2129-9908Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Assay:GWAS summary statistics· 2 Approach:benchmark study· 1 Research Focus:benchmarking· 1 Approach:deep learning· 1 Research Focus:GWAS / association mapping· 1 Research Focus:polygenic risk· 1 Approach:statistical model· 1

Frequent Co-Authors

Julien GagneuriD· 3 shared Felix BrechtmanniD· 2 shared Florian R. HölzlwimmeriD· 2 shared Shubhankar LondheiD· 2 shared Anna StarovoitiD· 1 shared Brian ClarkeiD· 1 shared Felix Munzlinger· 1 shared Francesco Paolo CasaleiD· 1 shared

Activity by Year

2023-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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3 shared papersGenomics

Julien GagneurORCID

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3 papers

Recent·Most cited

Phenotypes of ultra-rare variant carriers benchmark variant effect scores

Shubhankar Londhe, Eva Holtkamp, George Tsitsiridis, Anna Starovoit, Pedro Tomaz da Silva, Johannes Hingerl, Hilary K. Finucane, Julien Gagneur

The paper benchmarks variant effect scores using UK Biobank data on ultra-rare variant carriers, showing coding and splicing scores better predict protein abundance and traits than transcriptional regulation models.

bioRxiv · Oct 2, 2026 · PreprintGenomics

Functional gene embeddings improve rare variant polygenic risk scores

Shubhankar Londhe, Jonas Lindner, Zhifen Chen, Eva Holtkamp, Florian R. Hölzlwimmer, Francesco Paolo Casale, Felix Brechtmann, Julien Gagneur

FuncRVP improves rare variant polygenic risk scores by integrating functional gene embeddings, enhancing performance for traits with higher heritability.

bioRxiv · Jul 22, 2024 · PreprintGenetics

Integration of variant annotations using deep set networks boosts rare variant association genetics

Brian Clarke, Eva Holtkamp, Hakime Öztürk, Marcel Mück, Magnus Wahlberg, Kayla Meyer, Felix Munzlinger, Felix Brechtmann, Florian R. Hölzlwimmer, Julien Gagneur, Oliver Stegle

This paper introduces DeepRVAT, a deep learning model for rare variant association genetics, showing improved gene discovery and risk prediction using whole-exome sequencing data from UK Biobank.

bioRxiv · Jul 12, 2023 · PreprintBioinformatics